Receptor protein tyrosine phosphatases are cell membrane-localised proteins. They are regulators of cell-cell contacts and are also considered likely to be tumour suppressors but the specifics of how they function are unknown. A member of this family, PTPRK, is implicated as a tumour suppressor in several cancer types, particularly colorectal cancer, and mutations and genetic […]
Cell membranes play a crucial role in maintaining the integrity and functionality of cells. However, the mechanisms by which they perform these roles are not yet fully understood. Scientists from the University of Geneva (UNIGE), in collaboration with the Institut de biologie structurale de Grenoble (IBS) and the University of Fribourg (UNIFR), have used cryo-electron
Credit: Stroke (2024). DOI: 10.1161/STROKEAHA.124.047643 New research led by UCLA Health has found that specific genes may be related to the trajectory of recovery for stroke survivors, providing insights useful to doctors developing targeted therapies. Published in the journal Stroke this month, the findings were part of an exploratory study that sought to find whether
Mastocytosis patient demographics. Credit: 2024 Aldama et al. A new research paper titled “Prevalence and impact of the KIT M541L variant in patients with mastocytosis” has been published in Oncotarget. Activating mutations in KIT, particularly D816V, have been associated with mastocytosis. Additionally, expression of heterozygous KIT M541L has been primarily reported in patients with pediatric
Credit: CC0 Public Domain Whether or not a person becomes seriously ill with COVID-19 depends, among other things, on genetic factors. With this in mind, researchers from the University Hospital Bonn (UKB) and the University of Bonn, in cooperation with other research teams from Germany, the Netherlands, Spain and Italy, investigated a particularly large group
Credit: Pixabay/CC0 Public Domain A new and freely available Human Gut Microbiome Atlas could help researchers and health care professionals around the world better understand how microorganisms in the gut impact disease, leading to more effective treatment. The study, published in Genome Research, is an international collaboration led by King’s College London that identifies gut
Biopsy from a patient with collision type mixed ductal-lobular breast cancer, showing ductal cancer cells in blue and lobular cells in red. Credit: Shah et al. 2024, PNAS, doi: 10.1073/pnas.2322068121 As part of a breast cancer diagnosis, pathologists take cells from a biopsy and check them under a microscope. Most cancerous cells form roundish clumps,
Credit: Pixabay/CC0 Public Domain A new study by scientists at deCODE Genetics shows that sequence variants drive the correlation between DNA methylation and gene expression. The same variants are linked to various diseases and other human traits. The research is published in the journal Nature Genetics under the title “The correlation between CpG methylation and
VPS35-KO rods feature impaired clearance and SV recycling. Credit: Nature Communications (2024). DOI: 10.1038/s41467-024-50189-0 A new preclinical model offers a unique platform for studying the Parkinson’s disease process and suggests a relatively easy method for detecting the disease in people, according to a new study led by Weill Cornell Medicine researchers. In the study, published
The KAUST-developed technology uses simple molecular biology strategies to seek out the genomic regions that are suspected of harboring complex mutations, deletions or rearrangements. Credit: 2024 KAUST. Despite rapid advances in genetic testing in recent decades, more than half of people worldwide with suspected Mendelian genetic disorders do not have an accurate molecular diagnosis. Others